A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2423294



Internal ID17392083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:132816386..132817386hg38UCSC Ensembl
Innerchr6:133137525..133138525hg19UCSC Ensembl
Innerchr6:133179218..133180218hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970167
Supporting Variants
SamplesHGDP00456
Known GenesRPS12, SNORA33, SNORD100
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2423294
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer